ClinVar Miner

List of variants studied for Wolf-Hirschhorn syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 118
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HGVS dbSNP
GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)
GRCh37/hg19 4p16.3(chr4:1305802-2460571)
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)
NM_001042424.3(NSD2):c.*1025C>A rs548104599
NM_001042424.3(NSD2):c.*1085A>T rs111668967
NM_001042424.3(NSD2):c.*1138G>C rs77074637
NM_001042424.3(NSD2):c.*118G>A rs886059320
NM_001042424.3(NSD2):c.*1297A>G rs184511643
NM_001042424.3(NSD2):c.*1370dup rs886059325
NM_001042424.3(NSD2):c.*1458G>C rs886059326
NM_001042424.3(NSD2):c.*1468G>C rs886059327
NM_001042424.3(NSD2):c.*148C>T rs538719785
NM_001042424.3(NSD2):c.*1572A>G rs886059328
NM_001042424.3(NSD2):c.*1665C>T rs539743018
NM_001042424.3(NSD2):c.*167A>G rs114883490
NM_001042424.3(NSD2):c.*1686C>T rs74372602
NM_001042424.3(NSD2):c.*1757C>T rs886059329
NM_001042424.3(NSD2):c.*176C>T rs187504628
NM_001042424.3(NSD2):c.*1777C>T rs886059330
NM_001042424.3(NSD2):c.*183T>C rs192992535
NM_001042424.3(NSD2):c.*1844T>C rs755058552
NM_001042424.3(NSD2):c.*1849C>T rs562324621
NM_001042424.3(NSD2):c.*1850G>A rs765387218
NM_001042424.3(NSD2):c.*1922dup rs886059331
NM_001042424.3(NSD2):c.*1942T>C rs780819245
NM_001042424.3(NSD2):c.*2003T>G rs886059332
NM_001042424.3(NSD2):c.*2012dup rs766138833
NM_001042424.3(NSD2):c.*2019C>T rs10034373
NM_001042424.3(NSD2):c.*2020G>A rs778656433
NM_001042424.3(NSD2):c.*2094C>T rs141972110
NM_001042424.3(NSD2):c.*2121C>T rs116110889
NM_001042424.3(NSD2):c.*2337A>C rs146115430
NM_001042424.3(NSD2):c.*2355G>A rs140096622
NM_001042424.3(NSD2):c.*2414G>A rs886059334
NM_001042424.3(NSD2):c.*2423G>A rs886059335
NM_001042424.3(NSD2):c.*2521A>G rs180696589
NM_001042424.3(NSD2):c.*2603A>T rs886059336
NM_001042424.3(NSD2):c.*2634C>T rs112691599
NM_001042424.3(NSD2):c.*2733G>C rs73796676
NM_001042424.3(NSD2):c.*2780G>A rs139523257
NM_001042424.3(NSD2):c.*2811C>T rs149980218
NM_001042424.3(NSD2):c.*2812G>A rs886059337
NM_001042424.3(NSD2):c.*2847T>G rs886059338
NM_001042424.3(NSD2):c.*2917C>G rs145672223
NM_001042424.3(NSD2):c.*2920A>G rs2187692
NM_001042424.3(NSD2):c.*2938_*2941TGTT[1] rs147409255
NM_001042424.3(NSD2):c.*296A>G rs114085362
NM_001042424.3(NSD2):c.*3186T>C rs762277303
NM_001042424.3(NSD2):c.*3199G>T rs14647
NM_001042424.3(NSD2):c.*3208A>G rs142634124
NM_001042424.3(NSD2):c.*3241A>C rs569244997
NM_001042424.3(NSD2):c.*339_*341CTC[1] rs375129793
NM_001042424.3(NSD2):c.*524G>A rs112146288
NM_001042424.3(NSD2):c.*593G>T rs73202837
NM_001042424.3(NSD2):c.*620T>A rs1132849
NM_001042424.3(NSD2):c.*620T>G rs1132849
NM_001042424.3(NSD2):c.*661G>A rs767998808
NM_001042424.3(NSD2):c.*674A>G rs115893772
NM_001042424.3(NSD2):c.*731G>A rs886059322
NM_001042424.3(NSD2):c.*745T>C rs886059323
NM_001042424.3(NSD2):c.*870A>C rs117600071
NM_001042424.3(NSD2):c.*969G>A rs562124371
NM_001042424.3(NSD2):c.*986G>A rs886059324
NM_001042424.3(NSD2):c.*9G>A rs373762613
NM_001042424.3(NSD2):c.-29-1244G>A rs116056077
NM_001042424.3(NSD2):c.-29-1245C>T rs886059313
NM_001042424.3(NSD2):c.-29-1260A>G rs147609440
NM_001042424.3(NSD2):c.-29-1263T>C rs774930051
NM_001042424.3(NSD2):c.-29-1320G>A rs550551908
NM_001042424.3(NSD2):c.-29-1346C>T rs569542496
NM_001042424.3(NSD2):c.-29-1367C>A rs372789667
NM_001042424.3(NSD2):c.-29-1386G>A rs886059312
NM_001042424.3(NSD2):c.-29-6719G>A rs114792920
NM_001042424.3(NSD2):c.-29-6730T>G rs544091833
NM_001042424.3(NSD2):c.-29-6792T>G rs886059311
NM_001042424.3(NSD2):c.-29-6860A>T rs886059310
NM_001042424.3(NSD2):c.-29-6891A>G rs10019502
NM_001042424.3(NSD2):c.-29-6899C>T rs886059309
NM_001042424.3(NSD2):c.-29-7740T>A rs566943306
NM_001042424.3(NSD2):c.-29-7752A>C rs886059307
NM_001042424.3(NSD2):c.-29-7784C>G rs886059306
NM_001042424.3(NSD2):c.-29-7808C>T rs184985997
NM_001042424.3(NSD2):c.114C>T (p.Cys38=) rs759922625
NM_001042424.3(NSD2):c.11G>A (p.Ser4Asn) rs753120179
NM_001042424.3(NSD2):c.1330A>G (p.Thr444Ala) rs112014939
NM_001042424.3(NSD2):c.1582C>A (p.His528Asn) rs139753036
NM_001042424.3(NSD2):c.1584C>A (p.His528Gln) rs149810908
NM_001042424.3(NSD2):c.1653G>A (p.Thr551=) rs141132577
NM_001042424.3(NSD2):c.1675-10T>A rs886059317
NM_001042424.3(NSD2):c.1881+9A>T rs767417151
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) rs746926553
NM_001042424.3(NSD2):c.198C>T (p.Asn66=) rs140040537
NM_001042424.3(NSD2):c.199G>A (p.Gly67Ser) rs202235551
NM_001042424.3(NSD2):c.216C>G (p.Pro72=) rs112939388
NM_001042424.3(NSD2):c.228C>T (p.Ala76=) rs74665455
NM_001042424.3(NSD2):c.2352G>T (p.Arg784=) rs531537433
NM_001042424.3(NSD2):c.2414T>C (p.Val805Ala) rs144335923
NM_001042424.3(NSD2):c.2814G>A (p.Pro938=) rs62287053
NM_001042424.3(NSD2):c.2831G>A (p.Arg944Gln) rs756624618
NM_001042424.3(NSD2):c.3126C>T (p.His1042=) rs886059318
NM_001042424.3(NSD2):c.3474C>T (p.Asp1158=) rs138946638
NM_001042424.3(NSD2):c.3486C>T (p.Gly1162=) rs886059319
NM_001042424.3(NSD2):c.3495C>T (p.Ala1165=) rs73069117
NM_001042424.3(NSD2):c.3582A>G (p.Gly1194=) rs149284685
NM_001042424.3(NSD2):c.381A>G (p.Lys127=) rs149396950
NM_001042424.3(NSD2):c.3900C>T (p.Pro1300=) rs75949599
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=) rs149925711
NM_001042424.3(NSD2):c.4026C>G (p.Pro1342=) rs147624398
NM_001042424.3(NSD2):c.456T>G (p.Ser152=) rs886059314
NM_001042424.3(NSD2):c.546C>A (p.Gly182=) rs766214080
NM_001042424.3(NSD2):c.562C>G (p.Leu188Val) rs886059315
NM_001042424.3(NSD2):c.576C>T (p.Ile192=) rs138137147
NM_001042424.3(NSD2):c.884A>T (p.Gln295Leu) rs144431814
NM_001042424.3(NSD2):c.927+15T>C rs886059316
NM_001042424.3(NSD2):c.940A>G (p.Ile314Val) rs371529672
NM_001042424.3(NSD2):c.990A>G (p.Glu330=) rs143425918
NM_133330.2(NSD2):c.-384-5dupT rs886059308
NM_133330.2(NSD2):c.1676_1679del (p.Arg559Thrfs) rs1553873247

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